Canonical Allele Identifier: CA417957460

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 630640
• ClinVar RCV Id: RCV000776577 ; RCV002424774 ; RCV002067335
• dbSNP Id: rs1243883156
• gnomAD v3: 1-55043848-G-A
• gnomAD v4: 1-55043848-G-A
• MyVariant Identifiers: chr1:g.55509521G>A (hg19) ; chr1:g.55043848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043848G>A , CM000663.2:g.55043848G>A	GRCh38
NC_000001.10:g.55509521G>A , CM000663.1:g.55509521G>A	GRCh37
NC_000001.9:g.55282109G>A	NCBI36
NG_009061.1:g.9302G>A , LRG_275:g.9302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.213G>A	ENSP00000501161.2:p.Pro71=
ENST00000710286.1:c.570G>A	ENSP00000518176.1:p.Pro190=
ENST00000673726.1:c.213G>A	ENSP00000501004.1:p.Pro71=
ENST00000673903.1:c.-163G>A	ENSP00000501257.1:n.-163G>A
ENST00000302118.5:c.213G>A MANE Select	ENSP00000303208.5:p.Pro71=
NM_174936.3:c.213G>A , LRG_275t1:c.213G>A	NP_777596.2:p.Pro71=
NR_110451.1:n.182+3445G>A
NM_174936.4:c.213G>A MANE Select	NP_777596.2:p.Pro71=
NR_110451.2:n.182+3445G>A